MMP2 Gene (Matrix Metallopeptidase 2): Function, Disease Associations, and Clinical Significance
Comprehensive resource on MMP2, including genomic information, expression profiles, mutations, and associated diseases.
Gene Information Card
| Symbol | MMP2 |
|---|---|
| Full Name | Matrix Metallopeptidase 2 |
| Gene Type | protein coding |
| Chromosomal Location | 16q12.2 (GRCh38) |
| NCBI Gene ID | 4313 ncbi.nlm.nih.gov/gene/4313 |
| Ensembl ID | ENSG00000087245 |
| UniProt ID | P08253 |
| OMIM ID | 120360 |
| HGNC ID | 7166 |
| Aliases | CLG4A, MMP-2, TBE-1, MONA, CLG4, MMP-II |
Description
The MMP2 gene encodes matrix metallopeptidase 2, also known as gelatinase A or type IV collagenase. This enzyme is a zinc-dependent endopeptidase that degrades extracellular matrix components, particularly type IV collagen, and plays a critical role in tissue remodeling, angiogenesis, and cell migration. MMP2 is involved in various physiological processes and pathological conditions, including cancer metastasis, cardiovascular disease, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Winchester Syndrome | Biallelic loss-of-function mutations in MMP2 lead to impaired extracellular matrix remodeling, resulting in skeletal abnormalities and osteolysis. | OMIM #259600; ClinVar |
| Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) | Homozygous or compound heterozygous mutations in MMP2 cause MONA, characterized by progressive bone loss and joint destruction. | OMIM #259600; ClinVar |
| Torg-Winchester Syndrome | Mutations in MMP2 are associated with this rare autosomal recessive disorder, presenting with osteolysis and osteoporosis. | OMIM #259600; ClinVar |
| Cancer (various types) | Overexpression or dysregulation of MMP2 promotes tumor invasion and metastasis by degrading basement membranes and extracellular matrix. | COSMIC; PubMed (multiple studies) |
| Cardiovascular Diseases | MMP2 contributes to vascular remodeling and plaque instability in atherosclerosis and aortic aneurysms. | PubMed (multiple studies) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.2 | Medium |
| Spleen | 10.1 | Medium |
| Small Intestine | 9.8 | Medium |
| Colon | 8.5 | Low |
| Kidney | 7.9 | Low |
| Liver | 5.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| A549 | 12.8 | High expression |
| MCF7 | 8.2 | Moderate expression |
| HepG2 | 6.5 | Moderate expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1345C>T (p.Arg449Ter) | Nonsense | Rare | Loss of function; leads to truncated protein and MONA |
| c.1120G>A (p.Gly374Ser) | Missense | Rare | Loss of function; affects catalytic activity |
| c.1480A>G (p.Thr494Ala) | Missense | Rare | Loss of function; associated with Winchester syndrome |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Loss of function; reported in MONA patients |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic MMP2 mutations are loss-of-function, leading to reduced or absent enzyme activity, causing osteolysis syndromes.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression or increased activity is often due to transcriptional upregulation rather than mutations.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by forming inactive heterodimers with wild-type MMP2, though this is not well established.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • zinc ion binding |
| • extracellular matrix organization | • proteolysis |
| • collagen catabolic process | • angiogenesis |
| • cell migration | • response to hypoxia |
Pathways
• Matrix metalloproteinase pathway
• Extracellular matrix degradation
• Tumor invasion and metastasis
• Angiogenesis
• Tissue remodeling
Protein Summary
MMP2 is synthesized as a 72 kDa proenzyme (pro-MMP2) and activated by proteolytic cleavage. It contains a signal peptide, prodomain, catalytic domain with zinc-binding motif, and hemopexin-like domain. The enzyme degrades type IV collagen, gelatin, and other ECM components. MMP2 is inhibited by tissue inhibitors of metalloproteinases (TIMPs), particularly TIMP-2, which also facilitates its activation at the cell surface. MMP2 is widely expressed in connective tissues and inflammatory cells, and its dysregulation is implicated in cancer progression and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP20 Knockout HEK293 Cell Line | EDJ-KQ6545 | Human | 9313 | Details Get a Quote |
| MMP24 Knockout HEK293 Cell Line | EDJ-KQ7205 | Human | 10893 | Details Get a Quote |
| MMP21 Knockout HEK293 Cell Line | EDJ-KQ7632 | Human | 118856 | Details Get a Quote |
| IMMP2L Knockout HEK293 Cell Line | EDJ-KQ9946 | Human | 83943 | Details Get a Quote |
| MMP26 Knockout HEK293 Cell Line | EDJ-KQ12021 | Human | 56547 | Details Get a Quote |
| MMP27 Knockout HEK293 Cell Line | EDJ-KQ13489 | Human | 64066 | Details Get a Quote |
| MMP24OS Knockout HEK293 Cell Line | EDJ-KQ14275 | Human | 101410538 | Details Get a Quote |
| MMP25 Knockout HEK293 Cell Line | EDJ-KQ14276 | Human | 64386 | Details Get a Quote |
| MMP28 Knockout HEK293 Cell Line | EDJ-KQ14277 | Human | 79148 | Details Get a Quote |
| MMP2 Knockout HEK293 Cell Line | EDJ-KQ17782 | Human | 4313 | Details Get a Quote |
| MMP21 Knockout HCT 116 Cell Line | EDJ-KQ32981 | Human | 118856 | Details Get a Quote |
| MMP24OS Knockout A-549 Cell Line | EDJ-KQ44304 | Human | 101410538 | Details Get a Quote |
| MMP24OS Knockout HCT 116 Cell Line | EDJ-KQ44305 | Human | 101410538 | Details Get a Quote |
| MMP24OS Knockout HeLa Cell Line | EDJ-KQ44306 | Human | 101410538 | Details Get a Quote |
| MMP25 Knockout HCT 116 Cell Line | EDJ-KQ44307 | Human | 64386 | Details Get a Quote |
Displaying Records 1 To 15 Of 45 Records
- 1
- 2
- Next Page »
